rs5030728
This variant is located in the TLR4 gene.
▶Research that mentions this SNP (4)
▶The toll‐like receptor 2 (TLR2) ‐196 to ‐174 del/ins polymorphism affects viral loads and susceptibility to hepatocellular carcinoma in chronic hepatitis CReviewHans‐Dieter Nischalke et al.(2012)· International Journal of Cancer
A systematic literature review examining the association between toll-like receptor (TLR) single nucleotide polymorphisms and susceptibility to hepatitis B virus (HBV) and hepatitis C virus (HCV) infection, including disease progression to liver cirrhosis and hepatocellular carcinoma. The review identifies polymorphisms in TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, and TLR9 genes that affect viral susceptibility and disease outcomes, with mechanisms involving altered gene expression and immune signaling.
▶Toll‐like receptor genes and their association with colon and rectal cancer development and prognosisAssociationN=6,174Martha L. Slattery et al.(2012)· International Journal of Cancer
Population-based case-control study examining genetic variation in toll-like receptor genes (TLR2, TLR3, TLR4) and colon/rectal cancer risk and survival. TLR3 rs11721827 was associated with rectal cancer (OR 1.27, 95% CI 1.02-1.58), while TLR3 rs3775292 and TLR4 rs11536898 were associated with colon cancer (OR 0.68 and 0.50, respectively). Significant interactions were observed with NSAID use, smoking, and dietary factors. TLR2 rs5743704 and rs5743708 were associated with worse colon cancer survival (HRR 1.89 and 1.74, respectively).
▶Genetic variants in TLR2 and TLR4 are associated with markers of monocyte activation: the Atherosclerosis Risk in Communities MRI StudyAssociationN=1,817Suzette J. Bielinski et al.(2011)· Human Genetics
This candidate gene study of 1,817 participants from the ARIC Carotid MRI cohort identified genetic variants associated with monocyte activation markers. TLR2 rs1816702 was associated with increased CD14+/TLR2+ monocyte levels in whites (p<0.001), while TLR4 rs5030719 was associated with CD14+/TLR4+ levels in blacks (p<0.001). MPO gene variants also showed modest associations with monocyte MPO levels, demonstrating population-specific genetic influences on immune cell surface receptor expression.
▶Autophagy gene ATG16L1 but not IRGM is associated with Crohnʼs disease in Canadian childrenReviewDevendra K. Amre et al.(2009)· Inflammatory Bowel Diseases
This review examines the genetic basis of pediatric inflammatory bowel disease, discussing over 200 identified risk loci from genome-wide association studies and rare monogenic variants affecting susceptibility and progression. The paper highlights major IBD-associated genes including IL23R (rs11209026), NOD2, IL10, and ATG16L1, and proposes that genetic profiling and polygenic risk scores can enable precision medicine approaches for personalized diagnosis and treatment. The paper also discusses how genetic variants in immune, autophagy, and epithelial barrier genes contribute to disease pathogenesis across diverse populations.
About TLR4
The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
View all TLR4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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